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Objective To discuss the significance of genetic diagnosis of children with syndromic hearing loss by using whole-exome sequencing. Methods The clinical data of 34 children with sensorineural hearing loss were collected and the whole exons of genome of the children and their parents were sequenced and analyzed. Results Genetic causative gene and mutations have been identified in 19 children, including 4 genes (HARS2, USH2A, GATA3, MITF) related to rare syndromic hearing loss. Fifteen children were diagnosed with non-syndromic hearing loss related gene, including 8 cases with GJB2 mutation, 5 cases with SLC26A4 mutation and 2 cases with MYO15A mutation. Mutations of c.435_437del(p.K147del) and c.1403G > C (p.G468A) in gene HARS2, c.11389+1del in gene USH2A, c.1327delA(p.M443Wfs*33) in gene GATA3, c.627C > A(p.C209X) in gene MITF and c.8033_8057delinsG(p.N2678_D2686delinsS) in gene MYO15A were first reported. Conclusions Whole-exome sequencing helps the accurate diagnosis of causes of hearing loss, especially for the rare syndromic hearing loss with atypical clinical manifestations. Information from genetic testing may highlight further recommended exams of structure and functions of related organs.

ObjectiveTo determine the serum IgM and IgG antibody levels post-COVID-19 vaccination， and provide scientific evidence for COVID-19 antibody response after vaccination.MethodsA total of 980 healthy persons were included in Kunming Third People’s Hospital from July through August， 2021， which had been vaccinated with COVID-19 vaccines and then tested for anti-SARS-CoV-2 IgM and IgG antibodies.ResultsAfter the COVID-19 vaccination， 469 persons （positive rate， 47.86%） were positive for anti-IgG antibody. Of them， 75 were males with （positive rate， 39.06%）， and the average IgG level was 0.618 （0.180， 2.526） AU·mL-1［M（Q1，Q3）］； 394 were females （50.00%）， and the IgG level was 0.999 （0.305， 3.334） AU·mL-1. In addition， 53 persons （5.41%） were anti-IgM antibody positive. Of them， 14 were males （positive rate， 7.29%）， and the average IgM level was 0.057 （0.026， 0.195） AU·mL-1； 39 were females （4.95%）， and the IgM level was 0.047 （0.027， 0.110） AU·mL-1. The positive rate of anti-IgG antibody was highest in those aged ≤30 years， which was 51.02% in male （n=25） and 55.88% in female （n=133）. The anti-IgG response differed significantly by gender （χ2=7.401， D=0.135 1， P0.05）. Among the age groups， anti-IgG antibody level was higher in those aged ≤30 and 51-70 years， with 158 （55.05%） and 122 （52.36%） persons， respectively； the average antibody level was 1.209 （0.426， 4.386） AU·mL-1 and 1.074 （0.191， 7.670） AU·mL-1， respectively. The differences in the positive rates of IgG and IgM antibodies and the levels of IgG antibodies among different age groups were statistically significant （P